Philip McGoldrick

The paper constructs a single-nucleus transcriptome atlas of the orbitofrontal cortex in ALS and identifies cell-type-specific transcriptional changes, introducing a deep learning model to analyze alternative polyadenylation.

This paper shows C9orf72 expansions create a folate-sensitive fragile site FRA9A, leading to chromosomal instability and immune responses in patient cells and mice.

This study shows that loss of C9orf72 disrupts the Ran-GTPase gradient and creates diverse cytoplasmic Importin β-1 granules in neurons, linking it to nucleocytoplasmic transport defects.

The paper identifies an alternative open reading frame (altORF) within the FUS gene that contributes to toxicity in neurodegenerative models.